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On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
Changes in this gene were identified in a female, age 25 with Landau-Kleffner syndrome and progressive lower limb weakness (read full description).
Sep 20, 2018
nitric oxide synthase 1
NOS1 codes for a protein that makes nitric oxide from L-arginine. Nitric oxide acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities (Alderton et al. 2001).
Two changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this patient.
Interested in learning more about this gene or sharing what you know? Contact us!